A modern invasive procedure in obstetrics and gynecology designed to diagnose possible chromosomal and genetic abnormalities in the fetus.
It is carried out by puncturing the amniotic membrane and obtaining amniotic fluid for further laboratory examination of the genetic material of amniocyte cells.
- Amniotic fluid, or amniotic fluid, is a biologically active liquid medium that is found inside the fetal membranes during pregnancy and ensures the vital activity of the fetus until delivery.
- 16-20 weeks of pregnancy is the period of amniocentesis examination.
When is amniocentesis necessary?
An obstetrician-gynecologist can prescribe an amniocentesis procedure:
- For prenatal diagnosis of genetic diseases
- For cytogenetic studies of amniocytes
- In case of high water
- For the diagnosis of intrauterine infections
- To assess the general condition of the fetus
- For fetal surgery
- Determination of placental localization, assessment of uterine tone, fetal vital signs, and puncture site using ultrasound diagnostics
- Treatment of the anterior abdominal wall with antiseptics and insertion of a puncture needle into the uterus.
- Collection of amniotic fluid (amniotic fluid), which contains amniocyte cells
- Carrying out a karyogram of amniotic fluid (the analysis shows the chromosomal structure of cells, as well as changes in the number of chromosomes in the presence of genetic abnormalities)
Details of amniocentesis
- Clear amniotic fluid in the absence of pathologies
- 1.8-2.2 mm – diameter of the needle for amniotic fluid puncture
- 3-30 ml – the volume of amniotic fluid for further research
- 99% – accuracy of detection of chromosomal abnormalities and genetic abnormalities in amniocytes
- Amniotic fluid sampling for analysis takes 2-3 minutes
What types of studies can be performed on amniotic fluid cells?
Standard cytogenetic analysis with amniocyte culture
(the study period is 14 days)
Rapid analysis of amniotic fluid cells by FISH to detect chromosomal abnormalities (Down syndrome, Edwards syndrome, Patau syndrome, etc.)
(research period – 2 days)
A molecular genetic test to investigate changes in the structure of the chromosome set. It allows to estimate the probability of developing more than 400 severe genetic diseases.
(research period 12 days)
